Lab Information Manual

Laboratory:

Genomics

Test Name:

ACUTE INTERMITTENT PORPHYRIA (AIP) - HMBS GENE - (B)

Test Code: MD

Clinical Information:

Only two mutations, 161-1G>C and p.Arg225X, in the porphobilinogen deaminase (HBMS) gene are tested for. Patients must have a family history for one of these two specific mutations.

Collection Devices:

Preferred Device:	2 - EDTA 4 mL NO GEL Tube(s) - Full Tube Collection EDTA 4 mL NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dickinson & Company Catalogue #: 367861
Alternate Device:	6 - Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Manufacturer: Becton Dickinson & Company Catalogue #: 363706

Specimen Required:

Blood: 8.0 mL

Pediatric Blood: 3.0 mL

Specimen must be kept at room temperature. Pediatric volume for infants only.

Referral:

Requisition:

_SH Molecular Diagnostic Lab Test Requisition (R250-10-09)

Reference Values:

An interpretive report will be sent.

Availability:

Within 8 Weeks